Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P06126 (CD1a)
 2,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An increase in S100 protein-positive cells has been reported in inflammatory bowel diseases, mainly Crohn disease. These cells were interpreted as myeloid-derived dendritic cells, chiefly in follicular areas. We were prompted to assess the nature of these cells in interfollicular areas of inflamed colonic mucosa in ulcerative colitis and study their involvement in tumor necrosis factor alpha production, the main inflammatory cytokine in ulcerative colitis. The number and distribution of cells expressing S100 protein, nerve growth factor receptor, CD68, CD1a, CD83, and calretinin were studied in samples from 16 patients with active ulcerative colitis using simple and double immunohistochemistry. Then, the localization in S100 protein-positive cells of (1) tumor necrosis factor alpha, (2) its sheddase A disintegrin and metalloprotease-17, and (3) the receptors TNFR1 was assessed using double immunofluorescence followed by confocal microscopy. In active ulcerative colitis, there was an increased number in S100 protein-positive cells in interfollicular areas of colonic mucosa compared with quiescent ulcerative colitis, nonulcerative colitis, or normal mucosa. All S100 protein-positive cells ensheathed calretinin-positive axons, indicating their Schwann cell origin. No CD1a- or CD83-positive dendritic cells were detected. Double immunofluorescence studies showed that in normal colon, Schwann cells of the mucosa and submucosal plexuses weakly expressed A disintegrin and metalloprotease-17 but did not express tumor necrosis factor alpha. By contrast, in active ulcerative colitis, they expressed both A disintegrin and metalloprotease-17 and tumor necrosis factor alpha. Schwann cells as well as calretinin-positive axons strongly expressed TNFR1. This study shows (1) a Schwann cell proliferation in the inflamed colonic mucosa during active ulcerative colitis and (2) that Schwann cells produce tumor necrosis factor alpha. Tumor necrosis factor alpha is thus likely to stimulate Schwann cell proliferation through an autocrine/paracrine mechanism.
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PMID:In situ evidence of involvement of Schwann cells in ulcerative colitis: autocrine and paracrine signaling by A disintegrin and metalloprotease-17-mediated tumor necrosis factor alpha production. 1937 60

Atypical fibroxanthoma (AFX) is a rare skin tumor that generally pursues an indolent course despite its alarming histological appearances. It is important for the pathologist to distinguish this neoplasm from more aggressive lesions that may show very similar histological features. Recently, it has been suggested that demonstration of CD117 is of value in identifying AFX. To test this hypothesis, 50 cases of AFX were stained immunohistochemically for CD117 to determine the diagnostic value of this antibody. Cases were also stained for tryptase to identify mast cells, which are CD117 positive. In addition, S100 and CD1a stains were performed to assess any possible contribution of melanocytes or Langerhans cells to CD117 staining. Only 1 of 50 AFXs (2%) showed CD117 positivity in the neoplastic cells, but all tumors demonstrated included CD117- and tryptase-positive mast cells in similar distribution. CD117 is only rarely stainable in the neoplastic cells of AFX and is therefore not useful in identifying these tumors. Mast cells are also CD117 positive, frequently present in AFX, and can lead to misinterpretation. Using immunohistochemistry for mast cell tryptase may be of value where there is doubt as to the nature of CD117-positive cells in neoplasms.
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PMID:CD117 is not a useful marker for diagnosing atypical fibroxanthoma. 2052 72

A hybrid histiocytic sarcoma-interdigitating dendritic cell sarcoma was found in a small perinephric lymph node of an asymptomatic 80-year-old man, who presented a year ago with two small foci of lung metastasis found during routine chest X-ray. Fine needle aspiration cytology demonstrated interconnecting long and thin cell processes radiating from dendrite-like neoplastic cells with oval, enlongated, reniform, and irregular nuclei with vesicular chromatin and distinct nucleoli. Histology showed spindled epitheliod and histiocytic cells with abundant, slightly eosinophilic cytoplasm with indistinct cell borders and forming fascicles in a vague storiform pattern with interspersed T-lymphocytes. Immunohistochemically, the neoplastic cells were strongly positive for histiocytic markers: CD163, CD68, lysozyme, and PU.1, as well as strongly positive for dendritic cell markers: S100 and fascin, but were negative for CD1a (Langerhans cell marker), CD21/CD35 (follicular dendritic cell markers), B-cell, and T cell markers. This case is compared to the four hybrid histiocytic-dendritic sarcomas reported since 1983.
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PMID:Histiocytic sarcoma with interdigitating dendritic cell differentiation: a case report with fine needle aspiration cytology and review of literature. 1984 32

The central granular cell odontogenic tumor (CGCOT) is a rare lesion that usually affects the posterior region of the mandible of young adults. We present a case of CGCOT involving the mandible of a 20-year-old white woman, emphasizing the immunohistochemical characteristics using a large panel of antibodies. The lesion was removed surgically, and after 4 years of follow-up, there are no evidences of recurrences. The odontogenic epithelium (OE) showed positivity for cytokeratins (CKs) AE1/AE3, 34betaE12, CK5, CK7, CK8, CK14, CK19, E-cadherin, beta-catenin, CD138, and p63. The granular cells were positive for vimentin, CD68, lysozyme, muscle-specific actin, alpha-smooth muscle actin, calponin, neuron-specific enolase (NSE), CD138, and bcl-2. Dendritic-like cells surrounding the OE displayed positivity for vimentin, CD1a, S100, CD68, and bcl-2, but it was negative for factor XIIIa, supporting a Langerhans cell phenotype. Ki-67 labeling index was 1.8%, whereas p53 was negative. These data confirm the benign nature of CGCOT, the association of OE with Langerhans cells, and a variable phenotype of the granular cells.
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PMID:Central granular cell odontogenic tumor: a histopathologic and immunohistochemical study. 1991 79

In 2004, diabetes insipidus was the first clinical sign of Erdheim-Chester disease in our patient. Following introduction of substitution therapy with adiuretin, the patient had no further health complaints for four years until 2008 when he gradually developed dysarthria and, consequently, movement disorder in the form of mild right hemiparesis. The first CNS CT scan (2004) did not reveal any pathology. The first pathological MRI of the brain in 2006 - thickening of pituitary stalk by pathological infiltration to 4-5 mm. During the following year, further infiltrates were detected in the CNS. The number and size of CNS infiltrates increased gradually on MRIs performed repeatedly up to 2008. Erdheim-Chester disease has become suspected based on PET-CT examination at the end of 2008. CT showed irregular structure of the skeleton with noticeable sclerotic foci in otherwise osteoporotic bone structure; changes were the most evident in the long bones of lower limbs, in the pelvic bones, skull and arms, while only one vertebra was affected from within the entire spine. Finding ofthickened aortic wall (up to 8 mm) as another pathological circumstance was consistent with the Erdheim-Chester disease-associated changes described as coated aorta. CT scan revealed clear fibrotic changes in the area of retroperitoneum. Applied fluorodeoxyglucose has accumulated in the bone foci described on CTscans as well as in the thickened wall ofthe thoracic and abdominal aorta (SUV 3.6). Tc-pyrophosphonate skeleton scintigraphy showed the same bone foci as PET-CT. Full body MRI showed pathological signal from the bone marrow of the above mentioned locations, particularly during STIR imagining, where there was clear abnormal signal corresponding to accumulated histiocytes, the higher signal of which was well-differentiated from the normal bone marrow. Measurement of bone mineral density with DEXA confirmed reduced density in lumbar vertebrae to the average value of - 2.7 SD (the lowest value was -3.1SD). The disease is associated with elevated inflammatory parameters: leucocytosis, thrombocytosis, elevated CRP and fibrinogen levels. Diagnosis was verified following histological assessment ofiliac bone marrow, where focal infiltrations with foamy histiocytes of typical immunophenotype (CD68+, CD1a-, S100-) were confirmed. Treatment was initiated with chemotherapy consisting of 2g/m2 of cyclophosphamide on day 1 and 200 mg/m2 of etoposide IV infusion on days 1-3, and followed by administration of 5 microg/kg of G-CSF and collection of haematopoietic peripheral blood stem cells (PBSC). PBSC collection was followed by 5-day administration of 5 mg/m2/day of 2-chlorodeoxyadenosine (Litac) administered to the patient at monthly intervals.
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PMID:[Diabetes insipidus followed, after 4 years, with dysarthria and mild right-sided hemiparesis--the first clinical signs of Erdheim-Chester disease. Description and depiction of a case with a review of information on the disease]. 2007 34

Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis of unknown etiology, the commonest sites of involvement being the long bones, skin, orbit, pituitary and retroperitoneum. Breast involvement is rare, with only four reported cases in the English literature. We present a case of a 78-year-old female presenting with bilateral clinically malignant breast masses, with mammographic and ultrasound findings suggestive of locally advanced bilateral breast cancer. Core biopsies from both breasts showed identical features, with a diffuse xanthomatous infiltrate with scattered Touton-type giant cells and a patchy lymphocytic infiltrate. The cells were CD68 positive, and negative for S100, CD1a and a broad panel of cytokeratins. The patient has a background history of cerebrovascular disease with carotid artery stenosis, and subsequently developed rapid restenosis after carotid endarterectomy. With the combined clinical history and classic histological findings in the breast, a diagnosis of Erdheim-Chester disease was made. This is the fifth case report of Erdheim-Chester disease involving the breast, and only the second case with breast lesions as the presenting symptom. Perivascular infiltration is also a rare but recognized presentation of Erdheim-Chester disease. Histiocytic proliferations including ECD can mimic breast carcinoma clinically, radiologically, and histologically, and should be considered in the differential diagnosis of breast mass lesions.
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PMID:Erdheim-chester disease presenting as bilateral clinically malignant breast masses. 2021 77

Benign histiocytic proliferations are identified by their component cells and classified as either Langerhans cell histiocytosis or non-Langerhans cell histiocytosis. We report a 58-year-old Caucasian woman who presented with diabetes insipidus and was found to harbor a large suprasellar mass. Histopathological analysis was consistent with non-LCH. The differential diagnoses included juvenile xanthogranuloma, adult-onset xanthogranuloma, xanthoma disseminatum, Rosai-Dorfman disease, and Erdheim-Chester disease. Immunohistochemical examination demonstrated a proliferation of large lipid-laden histiocytic cells which were positive for CD68, negative for S100 protein, and showed only faint, background staining for CD1a. We present a case of an autopsy-confirmed non-Langerhans cell histiocytosis limited to the central nervous system and evaluated with both immunohistochemical and ultrastructural studies. Based on the multifocality, anatomic distribution, and immunostaining features, a diagnosis of Erdheim-Chester disease was made. This is only the second reported case of Erdheim-Chester disease with intracranial involvement but absence of extracerebral manifestations. Given the overlapping clinicopathologic, radiographic, and immunohistochemical profiles, differentiating between these rare histiocytic disorders can often present a significant diagnostic challenge. A systematic approach using all available clinical, laboratory, radiographic, histologic, immunohistochemical and ultrastructural data is essential for proper discrimination between the numerous histiocytoses.
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PMID:Non-Langerhans cell histiocytosis with isolated CNS involvement: an unusual variant of Erdheim-Chester disease. 2033 48

Multicentric reticulohistiocytosis is a very rare systemic disease that affects skin, mucosa and joints. We reported a case of a woman with multicentric reticulohistiocytosis who presented typical skin syndromes and arthralgia. Immunohistochemical analysis showed positive staining for S100 protein, which was reported negative in the majority of previously presented cases. Other immunohistochemical markers (CD68(+), CD1a(-), lagerin (-) and complete histologic and clinical picture were specific enough to make the definitive diagnosis of multicentric reticulohistiocytosis. The patient was administered prednisone just when arthritis appeared and we believe that this therapy protected her from the development of destructive arthritis. No autoimmune disease or internal malignancy was observed during 12-month follow up.
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PMID:Multicentric reticulohistiocytosis with S100 protein positive staining: a case report. 2036 87

We report on an uncommon laryngeal non-Langerhans cell histiocytosis. An 11-year-old boy presented with a 6 months history of progressive breath inhibition. Magnetic resonance imaging showed diffuse laryngeal and local lymph node swelling. Histology first resembled sarcoidosis, however, corticosteroids were ineffective. Lymphoma, infection, immunodeficiency, and autoimmune disease were excluded. Six months later, biopsies were repeated, now showing numerous ectatic lymph vessels with clusters of histiocytes bearing stellate extensions and emperipolesis. S100 protein and CD1a were negative. Indomethacin treatment led to a gradual improvement. In conclusion, we observed a nonmalignant non-Langerhans cell endolymphatic reticulohistiocytosis, not fitting into any of the described categories.
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PMID:Endolymphatic non-langerhans cell histiocytosis of the larynx: report of an uncommon disease manifestation. 2046 9

A 70-year-old male was admitted because of back pain due to peri-vertebral tumors. The histologic picture of a needle-biopsied tumor specimen showed pleomorphic large cell infiltration into the collagen fibers. On immunohistochemistry, these abnormal cells were positive for CD68, CD163 and lysozyme but negative for CD1a, 21, 30, and S100. Flow cytometric analysis also demonstrated that these cells were positive for CD13, 14, 38, 45, 56, and HLA-DR. A bone marrow aspirate showed the marked infiltration of abnormal large cells with the same surface antigens as described above. A diagnosis of HS was made. He showed monocytosis in the peripheral blood of more than 1.0 x 10(9)/L from presentation. The karyotype of bone marrow cells was 46,XY,+8. Fluorescent in situ hybridization (FISH) analysis with a probe for chromosome no. 8 showed that all these monocytes carried +8, indicating that he had another disorder of chronic myelomonocytic leukemia (CMML). FISH analysis with a probe for chromosome no. 12 demonstrated that the abnormal large cells in the bone marrow were all tetraploid, while analysis with the chromosome no. 8 probe showed more than 8 signals per cell, indicating that HS cells carried octasomy to decasomy of chromosome no. 8. These findings strongly suggest that HS in the present patient originated from underlying CMML.
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PMID:Histiocytic sarcoma and underlying chronic myelomonocytic leukemia: a proposal for the developmental classification of histiocytic sarcoma. 2053 95


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